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rs119485089

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119485089(C;T)
Make rs119485089(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position81365423
GeneGAN
is asnp
is mentioned by
dbSNPrs119485089
dbSNP (classic)rs119485089
ClinGenrs119485089
ebirs119485089
HLIrs119485089
Exacrs119485089
Gnomadrs119485089
Varsomers119485089
LitVarrs119485089
Maprs119485089
PheGenIrs119485089
Biobankrs119485089
1000 genomesrs119485089
hgdprs119485089
ensemblrs119485089
geneviewrs119485089
scholarrs119485089
googlers119485089
pharmgkbrs119485089
gwascentralrs119485089
openSNPrs119485089
23andMers119485089
SNPshotrs119485089
SNPdbers119485089
MSV3drs119485089
GWAS Ctlgrs119485089
Max Magnitude0
OMIM605379
Desc
Variant0002
Relatedalso
ClinVar
Risk rs119485089(T;T)
Alt rs119485089(T;T)
Reference Rs119485089(C;C)
Significance Pathogenic
Disease Giant axonal neuropathy
Variation info
Gene GAN
CLNDBN Giant axonal neuropathy
Reversed 0
HGVS NC_000016.9:g.81399028C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005334.3,